Dergiler / Turkish Journal of Gastroenterology / 2021 / Cilt: 32 - Sayı: 3

Familial Mediterranean Fever Mutation Analysis in Pediatric Patients With İnflammatory Bowel Disease: A Multicenter Study

Sayfa
248–260
DOI
—
🏛️Bu makalenin bibliyografik verileri ve tam metin bağlantısı DergiPark üzerinden sağlanmıştır.
DergiPark Kaydı ↗
✨

Yapay Zeka Hızlı Bakış & Çıkarımlar

AI Insight
⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

Conclusion: Although FMF mutations are unrelated to CD patients, but observed in UC patients with low PUCAI scores, it was established that mutations do not have a high impact on inflammatory response and clinical outcome of the disease.

📌 3 Maddede Bu Makale

🎯
Amaç & Hipotez:Background: The aim of the study was to evaluate familial Mediterranean fever (FMF) mutation analysis in pediatric patients with inflammatory bowel disease (IBD).
📊
Temel Bulgular & Veri:Methods: Children with IBD (334 ulcerative colitis (UC), 224 Crohn’s disease (CD), 39 indeterminate colitis (IC)) were tested for FMF mutations in this multicenter study.
💡
Sonuç & Katkı:Conclusion: Although FMF mutations are unrelated to CD patients, but observed in UC patients with low PUCAI scores, it was established that mutations do not have a high impact on inflammatory response and clinical outcome of the disease.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Özet

Background: The aim of the study was to evaluate familial Mediterranean fever (FMF) mutation analysis in pediatric patients with inflammatory bowel disease (IBD). The relation between MEFV mutations and chronic inflammatory diseases has been reported previously. Methods: Children with IBD (334 ulcerative colitis (UC), 224 Crohn’s disease (CD), 39 indeterminate colitis (IC)) were tested for FMF mutations in this multicenter study. The distribution of mutations according to disease type, histopathological findings, and disease activity indexes was determined. Results: A total of 597 children (mean age: 10.8 ± 4.6 years, M/F: 1.05) with IBD were included in the study. In this study, 41.9% of the patients had FMF mutations. E148Q was the most common mutation in UC and CD, and M694V in IC (30.5%, 34.5%, 47.1%, respectively). There was a significant difference in terms of endoscopic and histopathological findings according to mutation types (homozygous/heterozygous) in patients with UC (P < .05). There was a statistically significant difference between colonoscopy findings in patients with or without mutations (P=.031, P=.045, respectively). The patients with UC who had mutations had lower Pediatric Ulcerative Colitis Activity Index (PUCAI) scores than the patients without mutations (P=.007). Conclusion: Although FMF mutations are unrelated to CD patients, but observed in UC patients with low PUCAI scores, it was established that mutations do not have a high impact on inflammatory response and clinical outcome of the disease.

🔖

Bu Makaleye Atıf Yap

URGANCI, N., OZGENC, F., KULOĞLU, Z., YÜKSEKKAYA, H., SARI, S., ERKAN, T., ÖNAL, Z., ÇALTEPE, G., AKÇAM, M., ARSLAN, D., ARSLAN, N., ARTAN, R., AYDOĞAN, A., BALAMTEKİN, N., BARAN, M., BAYSOY, G., ÇAKIR, M., DALGIÇ, B., DOĞAN, Y., DURMAZ, Ö., ECEVIT, Ç., EREN, M., Seli, S. (2021). Familial Mediterranean Fever Mutation Analysis in Pediatric Patients With İnflammatory Bowel Disease: A Multicenter Study. Turkish Journal of Gastroenterology, Cilt: 32 - Sayı: 3, 248–260. https://ajindex.com/articles/405620

📄 Tam Metin PDF Okuyucu

📄

PDF görüntüleyici hazırlanıyor...

Kaynakça (14)

  1. French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet. 1997
  2. 17(1):25-31. [CrossRef] 2. Beşer OF, Kasapçopur O, Cokuğraş FC, Kutlu T, Arsoy N, Erkan T. Association of inflammatory bowel disease with familial Mediterranean fever in Turkish children. J Pediatr Gastroenterol Nutr. 2013
  3. 56(5):498-502. [CrossRef] 3. Uslu N, Yüce A, Demir H, et al. The association of inflammatory bowel disease and Mediterranean fever gene (MEFV) mutations in Turkish children. Dig Dis Sci. 2010
  4. 55(12):3488-3494. [CrossRef] 4. Ogura Y, Bonen DK, Inohara N, et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn’s disease. Nature. 2001
  5. 411(6837):603-606. [CrossRef] 5. Giaglis S, Mimidis K, Papadopoulos V, et al. Increased frequency of mutations in the gene responsible for familial Mediterranean fever (MEFV) in a cohort of patients with ulcerative colitis: evidence for a potential disease-modifying effect? Dig Dis Sci. 2006
  6. 51(4):687- 692. [CrossRef] 6. Fidder H, Chowers Y, Ackerman Z, et al. The familial Mediterranean fever (MEVF) gene as a modifier of Crohn’s disease. Am J Gastroenterol. 2005
  7. 100(2):338-343. [CrossRef] 7. Villani AC, Lemire M, Louis E, et al. Genetic variation in the familial Mediterranean fever gene (MEFV) and risk for Crohn’s disease and ulcerative colitis. PLoS ONE. 2009
  8. 4(9):e7154. [CrossRef] 8. Yurtcu E, Gokcan H, Yilmaz U, Sahin FI. Detection of MEFV gene mutations in patients with inflammatory bowel disease. Genet Test Mol Biomarkers. 2009
  9. 13(1):87-90. [CrossRef] 9. Kişla Ekinci RM, Balci S, Ufuk Altintaş D, Yilmaz M. The influence of concomitant disorders on disease severity of familial Mediterranean fever in children. Arch Rheumatol. 2018
  10. 33(3):282-287. [CrossRef] 10. Güncan S, Bilge NŞ, Cansu DÜ, Kaşifoğlu T, Korkmaz C. The role of MEFV mutations in the concurrent disorders observed in patients with familial Mediterranean fever. Eur J Rheumatol. 2016
  11. 3(3):118- 121. [CrossRef] 11. Maraş Y, Akdoğan A, Kisacik B, et al. MEFV mutation frequency and effect on disease severity in ankylosing spondylitis. Turk J Med Sci. 2014
  12. 44(2):203-207. [CrossRef] 12. Tunca M, Akar S, Onen F, et al. Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Med (Baltim). 2005
  13. 84(1):1-11. [CrossRef] 13. Sari S, Egritas O, Dalgic B. The familial Mediterranean fever (MEFV) gene may be a modifier factor of inflammatory bowel disease in infancy. Eur J Pediatr. 2008
  14. 167(4):391-393. [CrossRef] 14. Be